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LRRK2 N551K and R1398H variants are protective in Malays and Chinese in Malaysia: A case-control association study for Parkinson's disease

Gopalai AA 1 , Lim JL 1 , Li HH 2 , Zhao Y 3 , Lim TT 4 , Eow GB 5 Show all authors , Puvanarajah S 6 , Viswanathan S 6 , Norlinah MI 7 , Abdul Aziz Z 8 , Lim SK 9 , Tan CT 10 , Tan AH 10 , Lim SY 10 , Tan EK 11 , Ahmad Annuar A 1

Affiliations 

  • 1 Faculty of Medicine, Department of Biomedical Science, University of Malaya, Kuala Lumpur, Malaysia
  • 2 Health Services Research, Singapore General Hospital, Singapore, Singapore
  • 3 Department of Clinical Translational Research, Singapore General Hospital, Singapore, Singapore
  • 4 Island Hospital, George Town, Malaysia
  • 5 Department of Neurology, Hospital Pulau Pinang, Penang, Malaysia
  • 6 Department of Neurology, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia
  • 7 Hospital University Kebangsaan Malaysia, Kuala Lumpur, Malaysia
  • 8 Department of Medicine, Hospital Sultanah Nur Zahirah, Kuala Terengganu, Malaysia
  • 9 Faculty of Medicine, Department of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 10 Faculty of Medicine, Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, University of Malaya, Kuala Lumpur, Malaysia
  • 11 Department of Neurology, Singapore General Hospital, Singapore, Singapore
Mol Genet Genomic Med, 2019 Nov;7(11):e604.
PMID: 31487119 DOI: 10.1002/mgg3.604

Abstract

BACKGROUND: The LRRK2 gene is associated with Parkinson's disease (PD) as a number of mutations within the gene have been shown to be susceptibility factors. Studies on various global populations have determined that mutations such as G2019S, G2385R, and R1628P in LRRK2 increase the risk of developing PD while the N551K-R1398H haplotype is associated with conferring protection against developing PD. Here we report a study looking at the N551K and R1398H variants for the first time in the Malaysian population.

METHODS: Cases (523) which conformed to the United Kingdom PD Brain Bank Criteria for PD were recruited through trained neurologists and age- and ethnically matched controls (491) were individuals free of any neurological disorder. The N551K and R1398H mutations were genotyped using the Taqman SNP genotyping assay.

RESULTS: A significant protective association for N551K was found in those of Malay ancestry, with a protective trend seen for R1398H. A meta-analysis of Chinese individuals in this cohort with other published cohorts of Chinese ancestry indicated a significant protective role for N551K and R1398H.

CONCLUSION: This study reports that the N551K-R1398H haplotype is also relevant to the Malaysian population, with a significant protective effect found in those of Malay and Chinese ancestries.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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